Submissions for variant NM_016341.4(PLCE1):c.3132C>T (p.His1044=)

gnomAD frequency: 0.02481  dbSNP: rs61732522

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251373	SCV000312680	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302643	SCV000366220	benign	Nephrotic syndrome, type 3	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001651214	SCV001862309	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Invitae	RCV001651214	SCV002432525	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294186	SCV002587341	benign	Focal segmental glomerulosclerosis	2021-09-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000302643	SCV002801867	benign	Nephrotic syndrome, type 3	2021-07-19	criteria provided, single submitter	clinical testing